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    RTTN rotatin [ Homo sapiens (human) ]

    Gene ID: 25914, updated on 27-Nov-2024

    Summary

    Official Symbol
    RTTNprovided by HGNC
    Official Full Name
    rotatinprovided by HGNC
    Primary source
    HGNC:HGNC:18654
    See related
    Ensembl:ENSG00000176225 MIM:610436; AllianceGenome:HGNC:18654
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MSSP
    Summary
    This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development. [provided by RefSeq, Jan 2013]
    Expression
    Ubiquitous expression in testis (RPKM 2.7), ovary (RPKM 1.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RTTN in Genome Data Viewer
    Location:
    18q22.2
    Exon count:
    54
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (70003031..70205687, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (70220081..70422743, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (67670267..67872923, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene docking protein 6 Neighboring gene uncharacterized LOC107985138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:67506461-67506962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13475 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:67602408-67603607 Neighboring gene CD226 molecule Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13477 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13481 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:67714790-67715989 Neighboring gene Sharpr-MPRA regulatory region 7597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13484 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:67872991-67873620 Neighboring gene uncharacterized LOC105372180 Neighboring gene uncharacterized LOC124904321 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:67904225-67904725 Neighboring gene uncharacterized LOC107985158

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ26356, FLJ39085, DKFZp434G145

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in centriole replication IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in centriole-centriole cohesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ciliary basal body organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033104.1 RefSeqGene

      Range
      5040..207696
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318520.2NP_001305449.1  rotatin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and lacks an exon in its 5' UTR, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC011930, AC021701, AK096404, AL117635, BC046222, BC143723
      UniProtKB/TrEMBL
      A0A7I2V670
    2. NM_173630.4NP_775901.3  rotatin isoform 1

      See identical proteins and their annotated locations for NP_775901.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC011930, AK096404, BC046222, BC047602, BF507420
      Consensus CDS
      CCDS42443.1
      UniProtKB/Swiss-Prot
      Q68CS9, Q6ZRL8, Q6ZTK3, Q86TG4, Q86VV8, Q8N8N8, Q8TBQ4, Q96IN9, Q9UFJ4
      Related
      ENSP00000491507.1, ENST00000640769.2
      Conserved Domains (1) summary
      pfam14726
      Location:16112
      RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      70003031..70205687 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437468.1XP_047293424.1  rotatin isoform X5

    2. XM_017025693.2XP_016881182.1  rotatin isoform X3

    3. XM_011525903.3XP_011524205.1  rotatin isoform X4

      Conserved Domains (1) summary
      pfam14726
      Location:16112
      RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning
    4. XM_011525902.3XP_011524204.1  rotatin isoform X2

      Conserved Domains (1) summary
      pfam14726
      Location:16112
      RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning
    5. XM_006722434.4XP_006722497.1  rotatin isoform X1

      Conserved Domains (1) summary
      pfam14726
      Location:16112
      RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning
    6. XM_017025694.2XP_016881183.1  rotatin isoform X7

    7. XM_017025695.2XP_016881184.1  rotatin isoform X9

    8. XM_011525906.3XP_011524208.1  rotatin isoform X11

    9. XM_047437471.1XP_047293427.1  rotatin isoform X15

    10. XM_006722435.4XP_006722498.1  rotatin isoform X6

      Conserved Domains (1) summary
      pfam14726
      Location:16112
      RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning
    11. XM_011525904.4XP_011524206.1  rotatin isoform X8

      Conserved Domains (1) summary
      pfam14726
      Location:16112
      RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning
    12. XM_011525905.3XP_011524207.1  rotatin isoform X10

      Conserved Domains (1) summary
      pfam14726
      Location:16112
      RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning
    13. XM_011525907.3XP_011524209.1  rotatin isoform X12

      Conserved Domains (1) summary
      pfam14726
      Location:16112
      RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning
    14. XM_047437469.1XP_047293425.1  rotatin isoform X13

    15. XM_047437470.1XP_047293426.1  rotatin isoform X14

    RNA

    1. XR_430072.4 RNA Sequence

      Related
      ENST00000581161.5
    2. XR_007066140.1 RNA Sequence

      Related
      ENST00000638251.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      70220081..70422743 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318481.1XP_054174456.1  rotatin isoform X5

    2. XM_054318479.1XP_054174454.1  rotatin isoform X3

    3. XM_054318480.1XP_054174455.1  rotatin isoform X4

    4. XM_054318478.1XP_054174453.1  rotatin isoform X2

    5. XM_054318477.1XP_054174452.1  rotatin isoform X1

    6. XM_054318485.1XP_054174460.1  rotatin isoform X16

    7. XM_054318483.1XP_054174458.1  rotatin isoform X7

    8. XM_054318486.1XP_054174461.1  rotatin isoform X16

    9. XM_054318487.1XP_054174462.1  rotatin isoform X9

    10. XM_054318489.1XP_054174464.1  rotatin isoform X11

    11. XM_054318493.1XP_054174468.1  rotatin isoform X15

    12. XM_054318482.1XP_054174457.1  rotatin isoform X6

    13. XM_054318484.1XP_054174459.1  rotatin isoform X8

    14. XM_054318488.1XP_054174463.1  rotatin isoform X10

    15. XM_054318490.1XP_054174465.1  rotatin isoform X12

    16. XM_054318491.1XP_054174466.1  rotatin isoform X13

    17. XM_054318492.1XP_054174467.1  rotatin isoform X14

    RNA

    1. XR_008484995.1 RNA Sequence

    2. XR_008484996.1 RNA Sequence